Vijayalakshmi Gabbeta

<i>SMN2</i> splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

Nikolai A. Naryshkin, Marla Weetall, Amal Dakka et al. · Science · 2014 · 517 citations

Genetics, Molecular Biology, Therapeutics +21

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment

Daniel M. Ramos, Constantin d’Ydewalle, Vijayalakshmi Gabbeta et al. · Journal of Clinical Investigation · 2019 · 183 citations · Full text

Backgroundspinal Muscular Atrophy, Disease Progression, Pathology +23

Small molecule splicing modifiers with systemic HTT-lowering activity

Anuradha Bhattacharyya, Christopher R. Trotta, Jana Narasimhan et al. · Nature Communications · 2021 · 83 citations · Full text

Transcriptional Regulation, Systems Biology, Neurodegenerative Diseases +15

Discovery and Optimization of Small Molecule Splicing Modifiers of Survival Motor Neuron 2 as a Treatment for Spinal Muscular Atrophy

Matthew G. Woll, Hongyan Qi, Anthony Turpoff et al. · Journal of Medicinal Chemistry · 2016 · 61 citations

Molecular Biology, Social Sciences, Molecular Pharmacology +20

ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia

Elisabetta Morini, Dadi Gao, Connor M. Montgomery et al. · The American Journal of Human Genetics · 2019 · 49 citations · Full text

Genetic Disorder, Genetics, Motor Development +8